Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3677 | 11254;11255;11256 | chr2:178756447;178756446;178756445 | chr2:179621174;179621173;179621172 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3506 | 10741;10742;10743 | chr2:178756447;178756446;178756445 | chr2:179621174;179621173;179621172 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | None | None | None | 0.242 | None | gnomAD-4.0.0 | 6.84237E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99463E-07 | 0 | 0 |
| A/T | rs1205546695  |
None | None | None | None | 0.103 | None | gnomAD-4.0.0 | 6.84237E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99463E-07 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7247 | likely_pathogenic | None | None | -0.99 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.9704 | likely_pathogenic | None | None | -1.51 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.9166 | likely_pathogenic | None | None | -1.396 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.791 | likely_pathogenic | None | None | -0.776 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.3788 | ambiguous | None | None | -1.373 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/H | 0.961 | likely_pathogenic | None | None | -1.694 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.4275 | ambiguous | None | None | 0.107 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.9583 | likely_pathogenic | None | None | -1.191 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.408 | ambiguous | None | None | 0.107 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.5714 | likely_pathogenic | None | None | -0.015 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.9375 | likely_pathogenic | None | None | -1.204 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.9442 | likely_pathogenic | None | None | -0.201 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Q | 0.9033 | likely_pathogenic | None | None | -1.132 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.9126 | likely_pathogenic | None | None | -1.131 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.2677 | likely_benign | None | None | -1.667 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/T | 0.2263 | likely_benign | None | None | -1.421 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/V | 0.1912 | likely_benign | None | None | -0.201 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/W | 0.9843 | likely_pathogenic | None | None | -1.373 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.9389 | likely_pathogenic | None | None | -0.83 | Destabilizing | None | None | None | None | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.